A three-month-old girl presented with a reticular erythematous patch over her right thigh, which had been present since birth. The lesion did not disappear with warming. [researchgate.net]

Practice CMAJ March 08, 2011 183 (4) E249-E251; DOI: https://doi.org/10.1503/cmaj.091749 A three-month-old girl presented with a reticular erythematous patch over her right thigh, which had been present since birth. [cmaj.ca]

It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. CMTC invariably presents at birth or within a few days of age. [dermatologyadvisor.com]

This article describes the characteristics of the clinical presentations in a series of 7 children with CMTC in HRH Princess Maha Chakri Sirindhorn Medical Center, Srinakharinwirot University, Thailand. [ncbi.nlm.nih.gov]

In some affected individuals, ulcerations or congenital skin defects (aplasia cutis) can be present. The latter association can be part of Adams-Oliver syndrome. [rarediseases.org]

• Multiple Congenital Anomalies

  This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. [ncbi.nlm.nih.gov]

  Del Giudice SM, Nydorf ED: Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Arch Dermatol 1986;122:1060–1061. [karger.com]

  It is a congenital vascular anomaly characterized by persistent cutis marmorata and phlebectasia, and sometimes cutaneous atrophy and skin ulceration. [scolaris.beta.semantico.com]

  Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Archives of Dermatology, 122, 1060–1061. CrossRef Google Scholar Devillers, A. C., de Waard-van der Spek, F. B., & Oranje, A. P. (1999). [link.springer.com]

• Plethora

  A plethora of associated abnormalities have been reported. However, careful evaluation of these and more recent cases strongly suggests that the skin abnormalities in these patients are not CMTC but capillary malformations. [rarediseases.org]

• Short Stature

  Skeletal defects that have seen include syndactyly, hip dysplasia, clubfoot, cleft palate, micrognathia, triangular face, scaphoid scapulae, dystrophic teeth, high-arched palate, short stature, and tendinitis stenosans. [2] [3] [4] Neurological defects [statpearls.com]

  Other congenital anomalies associated with disease include micrognathia, triangular face, scaphoid scapulae, dystrophic teeth, high-arched palate, and short stature. [journals.lww.com]

  Mental retardation, macrocephaly, short stature and cran-iofacial dysmorphism in three sisters: a new entity among the mental retardation-macrocephaly syndromes? Clin Genet 1988;33:293-8 Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H. [rrnursingschool.biz]

  stature (VECS) Am J Med Genet 77:225–227, 1998 Werner’s syndrome – loss of subcutaneous tissue; bird-like facies, spindly legs Am J Med 108:143–152, 2000; AD 124:90–101, 1988 Wiedemann–Rautenstrauch (neonatal progeroid syndrome) – generalized lipoatrophy [yumpu.com]

• Fever

  She was the first female pediatrician in the Netherlands and died of scarlet fever at the age of 44 years. Incidence Unknown. Approximately 300 cases have been published worldwide. [accesspediatrics.mhmedical.com]

  She was the first female pediatrician in the Netherlands and died of scarlet fever at the age of 44 years. Unknown. Approximately 300 cases have been published worldwide. [accessanesthesiology.mhmedical.com]

  Th Page 60 and 61: somatostatin, sulfa, vigabatrin, pi Page 62 and 63: Erythema gyratum perstans BJD 58:11 Page 64 and 65: Trisomy 13 (trisomy D (13-15) - mem Page 66 and 67: Serum sickness NEJM 311:1407-1413, Page 68 and 69: Rocky Mountain spotted fever [yumpu.com]

  Simultaneously, fever, malaise and peripheral eosinophilia were noted. The clinical diagnosis of eosinophilic cellulitis (also known as Well's syndrome) was supported by the histopathological finding of typical "flame figures". [medworm.com]

• Turkish

  Sayli, “Cutis marmorata telangiectatica congenita: an unusual cause of lower extremity hypoplasia,” The Turkish Journal of Pediatrics, vol. 43, no. 2, pp. 159–161, 2001. View at: Google Scholar R. Levy and J. M. [hindawi.com]

  We included articles written in English, German, French, Norwegian, Swedish, Danish and Turkish (Fig. 1). Fig. 1 Flowchart illustrating the literature search for cutis marmorata telangiectatica congenita (CMTC) and the article selection process. [ojrd.biomedcentral.com]

• Vascular Disease

  Livedo reticularis can occur in association with collagen vascular diseases, but usually the onset is later in life. [dermatologyadvisor.com]

  Cutis marmorata telangiectatica congenita is a rare, benign, sporadic and cutaneous vascular disease. [turkarchpediatr.org]

  Some researchers suggested CMTC belongs to a group of vascular diseases (e.g., Sturge-Weber Syndrome, Klippel-Trénaunay Syndrome ) associated with other mesodermal defects occurring during embryogenesis. [accessanesthesiology.mhmedical.com]

  Sturge-Weber syndrome, KTW syndrome and CMTC may be included in a spectrum of vascular diseases that are associated with other developmental defects of the mesoderm during embryonic life. [ijpd.in]

  Malformation Abstract Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, cutaneous vascular disease with an unknown pathogenesis. [jofskin.org]

• Venous Insufficiency

  It is not yet known whether this will lead to venous insufficiency later in life. A plethora of associated abnormalities have been reported. [rarediseases.org]

• Skin Ulcer

  It is a congenital vascular anomaly characterized by persistent cutis marmorata and phlebectasia, and sometimes cutaneous atrophy and skin ulceration. [scolaris.beta.semantico.com]

  The presence of atrophy or skin ulceration can be particularly useful in distinguishing between the congenital and physiologic conditions. [cmaj.ca]

  It may occasionally occur along with open sores (skin ulceration) or skin atrophy. The skin symptoms associated with CMTC generally improve with age. [rareguru.com]

  Keywords: Cutis marmorata telangiectatica congenita, congenital vascular skin disorder, skin lesion improves How to cite this article: Chatterjee R, Dey S. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. [e-ijd.org]

• Skin Discoloration

  The skin discoloration pattern of LR results from veins in the skin that are filled with more blood than normal. [nlm.nih.gov]

  Sometimes, CMTC skin discoloration does not completely go away. Skin dimpling (fat atrophy) typically goes away before 1 year of age. There is no specific treatment for CMTC. Many CMTC skin lesions need no treatment. [cincinnatichildrens.org]

  discoloration secondary to dilation of subpapillary veinous plexi and occlusion of small vessels feeding the upper cutis Neonatal lupus erythematosus well-demarcated erythematous, mild-scaling plaque that is often annular and appears predominantly on [en.wikipedia.org]

  External links CMTC Information and Support Website Skin and Aging DermIS PeaceHealth [wikidoc.org]

• Cutis Laxa

  LAXA-LIKE APPEARANCE AUTOIMMU Page 138 and 139: Kabuki makeup syndrome - short stat Page 140 and 141: CTCL JAAD 29:331-334, 1993 Eruptive Page 142 and 143: IPEX syndrome - X-linked; immune dy Page 144 and 145: p.219, 2001; Rook p.636,1006 1998, Page [yumpu.com]

• Strabismus

  Findings in the other eight patients with associated abnormalities included hydrocephalus, hyperplasia/hypoplasia (body asymmetry), anal atresia, hearing loss, cardiovascular abnormalities, strabismus hypothyroidism, haemangioma, naevus anaemicus, café-au-lait [ncbi.nlm.nih.gov]

  J Pediatr Ophthalmol Strabismus. 1988;25(1):13–17. Vázquez F, López B, Requena L, García-Pérez A. Congenital glaucoma and cutis marmorata telangiectatica: report of the second case. [healio.com]

  J Pediatr Ophthalmol Strabismus. 1988;25(1):13–7. CAS PubMed Google Scholar Cremer H. Cutis marmorata telangiectatica congenita. Hautarzt. 1982;33(1):40–1. CAS PubMed Google Scholar Lynch PJ. [ojrd.biomedcentral.com]

• Visual Impairment

  Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, [ncbi.nlm.nih.gov]

  Ophthalmologic findings showed visual impairment and pale optic nerve papilla. Monitoring of child showed mental underdevelopment and motor retardation. [ircmj.portal.tools]

• Visual Impairment

  Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, [ncbi.nlm.nih.gov]

  Ophthalmologic findings showed visual impairment and pale optic nerve papilla. Monitoring of child showed mental underdevelopment and motor retardation. [ircmj.portal.tools]

• Stroke

  This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. [ncbi.nlm.nih.gov]

  Two other studies have reported autosomal recessive inherited homozygous mutations in the ARL6IP6 gene in patients with CMTC and stroke [38, 63]. [ojrd.biomedcentral.com]

  Congenital livedo reticularis and recurrent stroke-like episodes. Dev Med Child Neurol. 1993 ;35: 917 – 921. Google Scholar | Crossref | Medline | ISI 13. Wright, DR, Frieden, IJ, Orlow, SJ. [doi.org]

Additionally, we offer recommendations for the ophthalmologic workup for patients with CMTC. Finally, we examine the possible causes of CMTC and summarize the current efforts to establish an etiologic mechanism for this disease. [tandfonline.com]

Outline the workup of cutis marmorata telangiectatica congenita and describes the role of health professionals working together to manage this condition. [statpearls.com]

This activity reviews the workup of cutis marmorata telangiectatica congenita and describes the role of health professionals working together to manage this condition. [ncbi.nlm.nih.gov]

Postnatal workup established the diagnoses of cutis marmorata telangiectatica congenita (CMTC) and pulmonary lymphangiectasia. [karger.com]

Treatment Options CMTC persists in most patients, but lightens with age. Pulsed dye laser may lighten small superficial vessels, but deeper areas do not respond well. [dermatologyadvisor.com]

Other treatment is symptomatic and supportive. CMTC of the legs might be associated with early development of superficial venous insufficiency, which may require treatment. [rarediseases.org]

Orthopaedic treatment partially corrected the asymmetry and reduced the structural discrepancy, avoiding or at least simplifying surgical treatment on completion of growth. [ncbi.nlm.nih.gov]

The prognosis depends on the associated anomalies but it is generally good. Some cases have spontaneous resolution. [omicsonline.org]

Prognosis, in uncomplicated cases, is good. The neonatal period is regarded as the first four weeks of extrauterine life. [researchgate.net]

Prognosis Prognosis is generally good, with a tendency for clinical improvement during infancy or even complete resolution. The documents contained in this web site are presented for information purposes only. [orpha.net]

Cutis Marmorata Telangiectatica Congenita regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

Etiology The etiology of CMTC is unknown, with no clear genetic or environmental etiology. The sharp midline demarcation of lesions suggests genetic mosaicism as a contributing factor. [dermatologyadvisor.com]

Teratogens[ 4 ] and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiologies. [scolaris.beta.semantico.com]

Etiology The etiology remains unknown. Diagnostic methods Diagnosis is clinical. If the head is affected, ocular and neurological examination should be performed. Possible associated anomalies should be excluded by a careful clinical examination. [orpha.net]

Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good. [ncbi.nlm.nih.gov]

Summary Epidemiology About 300 cases have been reported so far. Both genders seem equally affected. [orpha.net]

Case report Epidemiology CMTC is believed to be very rare, with less than 1 in 1 million individuals affected, and approximately 300 cases have been described to date [1-3], after its first description [4]. [peertechzpublications.com]

Etiology Cutis marmorata telangiectatica congenita is of unknown etiology; however, several studies have attributed the cause of the disease to be multifactorial. [1] Epidemiology CMTC is usually present at birth however some cases of delayed onset have [statpearls.com]

Although the pathophysiological characteristics of the hydrocephalus in this syndrome is not fully known, previous reports have described its treatment with ventriculoperitoneal shunt placement. [ncbi.nlm.nih.gov]

Pathophysiology The pathophysiology of isolated CMTC remains uncertain. However, there are notions that its pathogenesis is associated with fetal ascites and elevated maternal bHCG [6]. [peertechzpublications.com]

Pathophysiology Doppler studies have shown a decreased flow rate of red blood cells, suggesting an abnormality in the vascular innervation of affected areas. [dermatologyadvisor.com]

Unfortunately, the etiology and pathophysiology of CMTC remains unknown, which obfuscates efforts to identify, examine, and initiate treatment in patients. [tandfonline.com]

Pathophysiology The role of external factors, including viral infections and teratogens, has been discussed, as several cases of cutis marmorata telangiectatica congenita (CMTC) occurred in the same geographic area, however, this could not been proven [accesspediatrics.mhmedical.com]

Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications. Copyright 2001 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]

Cutis Marmorata Telangiectatica Congenita regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

[…] minus' sign Virchow -triad Use Parentheses water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase "primary prevention [read.qxmd.com]